Genetic Disorders

1. Genetic Disorders A Collage of Multiple Syndromes

2. Syndromes Covered: Chromosomal Disorders • Down syndrome (Trisomy 21) • Edward’s syndrome (Trisomy 18) • Patau’s syndrome (Trisomy 13) • Klinefelter’s syndrome (XXY) • Turner syndrome (XO) • Super female syndrome (XXX) • Super male syndrome (XYY) • Cri du Chat (deletion on #5) • Fragile X (duplication on X)

3. Single Gene Disorders • Sickle Cell Anemia • Cystic Fibrosis • Huntington’s Disease • Autism (???)

4. …And, Sex Linked Traits • Color Blindness • Hemophilia

5. Chromosomal Disorders …are usually caused by an error in cell division

6. Down Syndrome=Trisomy 21 A young boy with Down syndrome • members.aol.com/InitiativeDown/index.htm

7. This is what a karyotype of a girl with downs syndrome would look like www.millerandlevine.com/genome/six.html

8. Some physical characteristics of individuals with DS… Mental/Cognitive??? http://www.infobiogen.fr/services/chromcancer/IntroItems/PolyTri21Eng.html

9. Edward’s Syndrome=Trisomy 18 Dakota, a young boy with Edward’s syndrome www.childrenofpromise.net/dakotaphotos.html

10. Mental retardation Undescended testicles in males Prominent back portion of the head Small head (microcephaly) Low-set, malformed ears Abnormally small jaw (micrognathia) Small mouth Cleft lip/Cleft palate Upturned nose Narrow eyelid folds (palpebral fissures) Growth deficiency Feeding difficulties Breathing difficulties Developmental delays Characteristics of Edward’s Syndrome

11. A karyotype of a male with Edward’s syndrome www.iupui.edu/~marrs/N100/ch10.html

12. Patau’s Syndrome=Trisomy 13 Meet Nicholas Wright the very proud son of Mark and Jayne Wright of Hudson, Illinois USA Nicholas was born with Trisomy 13. www.trisomyonline.org/wright.htm

13. Characteristics of Patau’s Syndrome • Most embryos with trisomy 13 do not survive gestation and are spontaneously aborted. • Of those surviving to term gestation, approximately 82-85% do not survive past 1 month of age, and 85-90% do not survive past 1 year of age. • Central Nervous System malformations (no forebrain development) • long term neurological disability, feeding difficulty, and frequent pneumonia and other respiratory infections. • *There have been 5 cases reported in the medical history of patients living beyond 10 years of age

14. www.tokyo-med.ac.jp/genet/cki-e.htm

15. Klinefelter’s Syndrome (XXY) William John Durfee, a patient with Klinefelter’s syndrome tiger.towson.edu/~tmccor1/durf.htm

16. Male w/Klinefelter’s Female w/ Turner www.anselm.edu/homepage/jpitocch/genbio/geneticsnot.html

17. k-12.pisd.edu/currInst/science/Genetic/karyo-kline-xxy.htm

18. Turner Syndrome (XO) Karen, a patient with Turner Syndrome www.geocities.com/kare_50273/aboutturners.html

19. fig.cox.miami.edu/Faculty/Dana/25001_13.html

20. sp.uconn.edu/~bi107vc/sp03/terry/division.html

21. Super Female Syndrome (Trisomy X) Females with Trisomy X are healthy and cannot be distinguished from (XX) females excepts by karyotype (shown) • http://www.biology.iupui.edu/biocourses/N100/images/XXXFemale.gif

22. Super Male Syndrome (XYY Syndrome) This syndrome is not well characterized although males that have XYY tend to be slightly taller than average

23. Other Genetic Disorders… Cri du Chat (Deletion on part of #5) • Characteristics: • “Cry of the cat," referring to the distinctive cry of children with this disorder • Abnormal larynx development, which becomes normal within a few weeks of birth • Low birth weight • Respiratory problems • Sometimes shortened lifespan…but usually normal life expectancy http://www.findhealer.com/glossary/images/criduchat.gif

24. Most common form of mental retardation Hyperactivity Short attention span Negative response to touch Hand-flapping Hand-biting Poor eye contact Repetition of words/phrases Double jointed Large or prominent ears Large testicles Fragile X Syndrome: Duplication of a piece of the X Chromosome

25. Single Gene Traits Sickle Cell Anemia • Inherited blood disorder (recessive) • Mostly affects people of African ancestory • 1 in 12 African Americans have it • Affects hemoglobin (which carries oxygen in blood) and makes Red Blood Cells sticky • Interesting correlation between sickle cell and increased resistance to malaria

26. Cystic Fibrosis • Inherited chronic disease that affects lungs and digestive system • Defective gene causes the body to produce unusually thick, sticky mucus

27. Huntington’s Disease • Hereditary brain disorder that diminishes ability to walk, think, talk, and reason • Onset usually between the ages of 30-45

28. Tay-Sachs Disease • Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood

29. Autism • 3 distinctive behaviors that characterize autism:    -difficulties with social interaction -problems with verbal and nonverbal communication -repetitive behaviors or narrow, obsessive interests.  • These behaviors can range in impact from mild to disabling

30. Sex-Linked Traits…linked to the sex chromosomes • Color Blindness • Hemophilia • Both are usually found in males only- why??

31. Half shaded=carrier; If III-2 and III-3 have a child (I know...weird), what are the odds of it getting the “disease”?